Dergiler / Kahramanmaraş Sütçü İmam Üniversitesi Tıp Fakültesi Dergisi / 2016 / Cilt: 11 - Sayı: 2

Significance of the T3151, T317L, E255K AND Y253H BCR-ABL gene mutations in Philadelphia positive Chronic Myeloid Leukemia patients

Sayfa
1–1
Yayın Tarihi
2016-12-08
DOI
—
🏛️Bu makalenin bibliyografik verileri ve tam metin bağlantısı DergiPark üzerinden sağlanmıştır.
DergiPark Kaydı ↗
✨

Yapay Zeka Hızlı Bakış & Çıkarımlar

AI Insight
⚡ TL;DR(1 Cümlede Hızlı Çıkarım)

To determine the optimal treatment type; resistance should be identified in early stages in CML patients and the rational treatment should be planned according to the determined mutation type.

📌 3 Maddede Bu Makale

🎯
Amaç & Hipotez:In this study it has been aimed to scan the most frequently observed types of mutations in imanitib treated Philadelphia positive (Ph+) Chronic Myelositer Leukemia (CML) patients, namely the T315I, F317L, Y253H, and the P-Ioop phosphate binding region E255K mutations, in order to demonstrate any significant correlation between the presence of these mutations and the estimations on the relevant clinical parameters.
📊
Temel Bulgular & Veri:Fifty four chronic phase (CP) CML patients attending two separate centers between 2000 and 2008 were included in this study, after scanning by the ASO-PCR method, to be positive for T315I, F317L, Y253H and E255K mutations in the BCR-ABL gene.
💡
Sonuç & Katkı:To determine the optimal treatment type; resistance should be identified in early stages in CML patients and the rational treatment should be planned according to the determined mutation type.
🔬Tür:Araştırma Makalesi
📍Kapsam:2000 Verileri
⚙️Değişkenler:Alan Parametreleri

Abstract

In this study it has been aimed to scan the most frequently observed types of mutations in imanitib treated Philadelphia positive (Ph+) Chronic Myelositer Leukemia (CML) patients, namely the T315I, F317L, Y253H, and the P-Ioop phosphate binding region E255K mutations, in order to demonstrate any significant correlation between the presence of these mutations and the estimations on the relevant clinical parameters. Fifty four chronic phase (CP) CML patients attending two separate centers between 2000 and 2008 were included in this study, after scanning by the ASO-PCR method, to be positive for T315I, F317L, Y253H and E255K mutations in the BCR-ABL gene. Twenty of the patients were men and 42 were women with a median age of 44.5 (19-78). According to the Sokol classification for diagnosis, 12 cases (22.2%) were in the low risk, 26 (48.1%) were in the middle risk and 16 (29.6%) were in the high risk group. Median time of imatinib usage was 1.8 (0.3-7) years. Response to imatinib treatment was optimal in 24 (%44.4) of the patients and suboptimal in 10 (18.5%) of the patients, while 20 (37%) showed resistance. Expected values in 7 years were found to be 96% for median overall survival (OS) and 80% for progression-free survival (PFS). Scanned mutations were observed in 18 (33.3%) patients and T315I and F317L together were detected in 2 patients. Mutations were detected in 60% (p=0.004) of the imatinib resistant patients and the 7-year PFS in this group was 62%, while it was 90% (p=0.041) in patients without detected mutations. While patients with T3151 mutation were recommended allogeneic stem cell transplantation, patients with F317L mutation were started on nilotinib and dasatinib treatment. To determine the optimal treatment type; resistance should be identified in early stages in CML patients and the rational treatment should be planned according to the determined mutation type.

🔖

Bu Makaleye Atıf Yap

PEHLİVAN, S., KİS, C., ESER, B., YILMAZ, M., KAYNAR, L., BALCI, S. O., CETİN, M., PEHLİVAN, M. (2016). Significance of the T3151, T317L, E255K AND Y253H BCR-ABL gene mutations in Philadelphia positive Chronic Myeloid Leukemia patients. Kahramanmaraş Sütçü İmam Üniversitesi Tıp Fakültesi Dergisi, Cilt: 11 - Sayı: 2, 1–1. https://ajindex.com/articles/783417

📄 Tam Metin PDF Okuyucu

📄

PDF görüntüleyici hazırlanıyor...

Kaynakça (9)

  1. REFERENCES Yong SM, Melo JV. The impact of gene profiling in chronic myeloid leukaemia. Best Practice and Research Clinical Haematology, Elsevier. 2009; 22: 181-190.
  2. Chen Y, Li S. Molecular signatures of chronic myeloid leukemia stem cells. Biomark Res 2013; 1: 21. Doi:10.1186/2050-7771-1-21.
  3. Rohrbacher M, Hasford J. Epidemiology of chronic myeloid leukemia. Best Practice and Research Clinical Haematology, Elsevier. 2009; 22: 295-302. Ranjan A, penninga E, Jelsig AM, et al. Inheritance of the chronic myeloproliferative neoplasms. A systematic review. Clin Genet 2013; 83: 99-107.
  4. Soverini S, De Benedittis C, Papayannidis C, et al. Drug resistance and BCR-ABL kinase domain mutations in philadelphia chromosome-positive acute lymphoblastic leukemia from imatinib to the second-generation tyrosine kinase inhibitor era: The main changes are in the type of mutations, but not in the frequency of mutation involvement. Cancer 2013; Dec 30. Doi:10.1002/cncr.28522. Hernandez-Boluda JC, Cervantes F. Prognostic factors in chronic myeloid leukemia. Best Practice and Research Clinical Haematology, Elsevier. 2009; 22: 343-353.
  5. Baccarani M, Rosti G, de Vivo A, et al. Italian Cooperative Study Group on Myeloid Leukemia. A randomized study of interferon-alpha and low-dose arabinosyl cytosine in chronic myeloid leukemia. Blood 2002; 99: 1527-1535.
  6. Wei Y, Hardling M, Olsson B, et al. Not all imatinib resistance in CML are BCR-ABL kinaz domain mutations. Ann Hematol 2006; 85: 841-847. Lıtzow MR. İmatinib Resistance Obstacles and Oppurtunities. Arch Pathol Lab Med 2006;130: 669-679.
  7. Visani G, Isidori A. Resistant chronic myeloid leukemia beyond tyrosine kinase inhibitor therapy: which role for omacetaxine? Kang HY, Hwank JU, Kim SH, et al. Comparasion of allele specific oligonucleotide-polymerase chain reaction and direct sequencing for high throughput screening of ABL kinase domain mutations in chronic myeloid leukemia resistance to imatinib. Haematologica 2006; 91: 659-662.
  8. Gasser RB, Hu M, Chilton NB, et al. Single-strand conformation polymorphism (SSCP) for the analysis of genetic variation. Nature Protocols 2007;1: 3121-3128.
  9. Elias MH, Baba AA, Husin A, et al. Contribution of BCR-ABL kinase domain mutations to imatinib mesylate resistance in Philadelphia chromosome positive Malasian chronic myeloid leukemia patients. Hematol Rep 2012; 4: e23. Doi:10.4081/hr.2012.e23. Hess G, Meyer RG, Schuch B, et al. Sustained remissions and low rate of BCR-ABL resistance mutations with imat